(Q46147303)

English

Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene

scientific article published in November 2008

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scholarly article

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/19169493

Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/19169493

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Andrew Tym Hattersley

9

object named as

Andrew T Hattersley

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Europe PubMed Central

PubMed publication ID

19 December 2017

author name string

Thais Della Manna

1

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/19169493

Claudilene Battistim

2

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Europe PubMed Central

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19 December 2017

http://europepmc.org/abstract/MED/19169493

Vanessa Radonsky

3

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Europe PubMed Central

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19 December 2017

http://europepmc.org/abstract/MED/19169493

Roberta D Savoldelli

4

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Europe PubMed Central

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19 December 2017

http://europepmc.org/abstract/MED/19169493

Durval Damiani

5

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19 December 2017

http://europepmc.org/abstract/MED/19169493

Fernando Kok

6

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Europe PubMed Central

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19 December 2017

http://europepmc.org/abstract/MED/19169493

Ewan R Pearson

7

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Europe PubMed Central

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19 December 2017

http://europepmc.org/abstract/MED/19169493

Sian Ellard

8

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Europe PubMed Central

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19 December 2017

http://europepmc.org/abstract/MED/19169493

André F Reis

10

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19 December 2017

http://europepmc.org/abstract/MED/19169493

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publication date

1 November 2008

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Europe PubMed Central

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19 December 2017

http://europepmc.org/abstract/MED/19169493

Arquivos Brasileiros de Endocrinologia e Metabologia

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Europe PubMed Central

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19 December 2017

http://europepmc.org/abstract/MED/19169493

52

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19 December 2017

http://europepmc.org/abstract/MED/19169493

8

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/19169493

1350-1355

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Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/19169493

Long-term course of neonatal diabetes.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Aetiopathology and genetic basis of neonatal diabetes

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Neonatal diabetes mellitus: from understudy to center stage

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R2

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Molecular basis of neonatal diabetes in Japanese patients.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Molecular analysis of ATP-sensitive K channel gating and implications for channel inhibition by ATP.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation i

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302008000800024

21 January 2018

Identifiers

10.1590/S0004-27302008000800024

1 reference

Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/19169493

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 December 2017

http://europepmc.org/abstract/MED/19169493

ResearchGate publication ID

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